Detalhe da pesquisa
1.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Nucleic Acids Res
; 51(D1): D1230-D1241, 2023 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36373660
2.
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Hum Mutat
; 43(9): 1268-1285, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35475554
3.
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Database (Oxford)
; 20232023 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36617168
4.
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
BMC Med Genomics
; 15(1): 31, 2022 02 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35180879
5.
A community approach to the cancer-variant-interpretation bottleneck.
Nat Cancer
; 3(5): 522-525, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35624339